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Neural tube defects: recent advances, unsolved questions, and controversies
by
Greene, Nicholas DE
, Stanier, Philip
, Copp, Andrew J
in
Acids
/ Amniotic fluid
/ Animals
/ Birth defects
/ Clinical trials
/ Databases, Factual - statistics & numerical data
/ Disease Models, Animal
/ Fetuses
/ Folic Acid - metabolism
/ Folic Acid - therapeutic use
/ Genetic Predisposition to Disease
/ Humans
/ Hydrocephalus
/ Medical prognosis
/ Methylenetetrahydrofolate Reductase (NADPH2) - genetics
/ Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
/ Mutation - genetics
/ Neural Tube Defects - epidemiology
/ Neural Tube Defects - etiology
/ Neural Tube Defects - genetics
/ Neural Tube Defects - therapy
/ Neurodegeneration
/ Neurology
/ Pregnancy
/ Prevention
/ Spina bifida
/ Spinal cord
/ Surgery
/ Vitamin B
2013
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Neural tube defects: recent advances, unsolved questions, and controversies
by
Greene, Nicholas DE
, Stanier, Philip
, Copp, Andrew J
in
Acids
/ Amniotic fluid
/ Animals
/ Birth defects
/ Clinical trials
/ Databases, Factual - statistics & numerical data
/ Disease Models, Animal
/ Fetuses
/ Folic Acid - metabolism
/ Folic Acid - therapeutic use
/ Genetic Predisposition to Disease
/ Humans
/ Hydrocephalus
/ Medical prognosis
/ Methylenetetrahydrofolate Reductase (NADPH2) - genetics
/ Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
/ Mutation - genetics
/ Neural Tube Defects - epidemiology
/ Neural Tube Defects - etiology
/ Neural Tube Defects - genetics
/ Neural Tube Defects - therapy
/ Neurodegeneration
/ Neurology
/ Pregnancy
/ Prevention
/ Spina bifida
/ Spinal cord
/ Surgery
/ Vitamin B
2013
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Neural tube defects: recent advances, unsolved questions, and controversies
by
Greene, Nicholas DE
, Stanier, Philip
, Copp, Andrew J
in
Acids
/ Amniotic fluid
/ Animals
/ Birth defects
/ Clinical trials
/ Databases, Factual - statistics & numerical data
/ Disease Models, Animal
/ Fetuses
/ Folic Acid - metabolism
/ Folic Acid - therapeutic use
/ Genetic Predisposition to Disease
/ Humans
/ Hydrocephalus
/ Medical prognosis
/ Methylenetetrahydrofolate Reductase (NADPH2) - genetics
/ Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
/ Mutation - genetics
/ Neural Tube Defects - epidemiology
/ Neural Tube Defects - etiology
/ Neural Tube Defects - genetics
/ Neural Tube Defects - therapy
/ Neurodegeneration
/ Neurology
/ Pregnancy
/ Prevention
/ Spina bifida
/ Spinal cord
/ Surgery
/ Vitamin B
2013
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Neural tube defects: recent advances, unsolved questions, and controversies
Journal Article
Neural tube defects: recent advances, unsolved questions, and controversies
2013
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Overview
Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in the UK. Genetic predisposition accounts for most of the risk of neural tube defects, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but studies of mouse models of neural tube defects show that anencephaly, open spina bifida, and craniorachischisis result from failure of primary neurulation, whereas skin-covered spinal dysraphism results from defective secondary neurulation. Other malformations, such as encephalocele, are likely to be postneurulation disorders.
Publisher
Elsevier Ltd,Elsevier Limited
Subject
/ Animals
/ Databases, Factual - statistics & numerical data
/ Fetuses
/ Folic Acid - therapeutic use
/ Genetic Predisposition to Disease
/ Humans
/ Methylenetetrahydrofolate Reductase (NADPH2) - genetics
/ Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
/ Neural Tube Defects - epidemiology
/ Neural Tube Defects - etiology
/ Neural Tube Defects - genetics
/ Neural Tube Defects - therapy
/ Surgery
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